Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33050 | 99373;99374;99375 | chr2:178538681;178538680;178538679 | chr2:179403408;179403407;179403406 |
| N2AB | 31409 | 94450;94451;94452 | chr2:178538681;178538680;178538679 | chr2:179403408;179403407;179403406 |
| N2A | 30482 | 91669;91670;91671 | chr2:178538681;178538680;178538679 | chr2:179403408;179403407;179403406 |
| N2B | 23985 | 72178;72179;72180 | chr2:178538681;178538680;178538679 | chr2:179403408;179403407;179403406 |
| Novex-1 | 24110 | 72553;72554;72555 | chr2:178538681;178538680;178538679 | chr2:179403408;179403407;179403406 |
| Novex-2 | 24177 | 72754;72755;72756 | chr2:178538681;178538680;178538679 | chr2:179403408;179403407;179403406 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/M | rs780650379  |
None | 1.0 | N | 0.696 | 0.459 | 0.403609169532 | gnomAD-4.0.0 | 4.7896E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29649E-06 | 0 | 0 |
| K/N | None | None | 0.999 | N | 0.677 | 0.179 | 0.212008924253 | gnomAD-4.0.0 | 3.60099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93753E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3554 | ambiguous | 0.4161 | ambiguous | 0.057 | Stabilizing | 0.997 | D | 0.565 | neutral | None | None | None | None | N |
| K/C | 0.788 | likely_pathogenic | 0.8335 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| K/D | 0.5368 | ambiguous | 0.5837 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| K/E | 0.2041 | likely_benign | 0.225 | benign | -0.272 | Destabilizing | 0.992 | D | 0.477 | neutral | N | 0.42454992 | None | None | N |
| K/F | 0.8556 | likely_pathogenic | 0.8904 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/G | 0.3912 | ambiguous | 0.4633 | ambiguous | -0.078 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| K/H | 0.4004 | ambiguous | 0.4516 | ambiguous | -0.191 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/I | 0.5099 | ambiguous | 0.5507 | ambiguous | 0.33 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| K/L | 0.4572 | ambiguous | 0.5179 | ambiguous | 0.33 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| K/M | 0.3549 | ambiguous | 0.4019 | ambiguous | -0.043 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.50316542 | None | None | N |
| K/N | 0.4541 | ambiguous | 0.5044 | ambiguous | 0.056 | Stabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.464684389 | None | None | N |
| K/P | 0.5563 | ambiguous | 0.6365 | pathogenic | 0.263 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/Q | 0.1532 | likely_benign | 0.1733 | benign | -0.087 | Destabilizing | 0.957 | D | 0.299 | neutral | N | 0.447773497 | None | None | N |
| K/R | 0.0878 | likely_benign | 0.0962 | benign | -0.076 | Destabilizing | 0.996 | D | 0.509 | neutral | N | 0.464511031 | None | None | N |
| K/S | 0.4095 | ambiguous | 0.4619 | ambiguous | -0.305 | Destabilizing | 0.997 | D | 0.569 | neutral | None | None | None | None | N |
| K/T | 0.196 | likely_benign | 0.2179 | benign | -0.198 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.412524773 | None | None | N |
| K/V | 0.4432 | ambiguous | 0.4849 | ambiguous | 0.263 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/W | 0.809 | likely_pathogenic | 0.8556 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| K/Y | 0.7407 | likely_pathogenic | 0.789 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.